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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for CSPP1

check button Gene summary
Gene informationGene symbol

CSPP1

Gene ID

79848

Gene namecentrosome and spindle pole associated protein 1
SynonymsCSPP|JBTS21
Cytomap

8q13.1-q13.2

Type of geneprotein-coding
Descriptioncentrosome and spindle pole-associated protein 1
Modification date20180523
UniProtAcc

Q1MSJ5

ContextPubMed: CSPP1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for CSPP1 from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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Gene isoform structures and expression levels for CSPP1

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for CSPP1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_483858867986477:67986586:67987040:67987158:67988716:6798881667987040:67987158ENSG00000104218.9ENST00000519701.1
exon_skip_483860867986477:67986586:67988716:67988816:67998241:6799834567988716:67988816ENSG00000104218.9ENST00000262210.5,ENST00000521919.1,ENST00000519163.1,ENST00000412460.1
exon_skip_483862867998241:67998345:67999057:67999081:68004037:6800410467999057:67999081ENSG00000104218.9ENST00000519163.1,ENST00000412460.1
exon_skip_483863867998241:67998345:68004037:68004118:68005777:6800585568004037:68004118ENSG00000104218.9ENST00000521919.1
exon_skip_483866867998241:67998345:68005777:68005876:68007527:6800796768005777:68005876ENSG00000104218.9ENST00000262210.5,ENST00000519668.1
exon_skip_483867868004037:68004118:68005777:68005876:68007527:6800796768005777:68005876ENSG00000104218.9ENST00000519163.1,ENST00000412460.1
exon_skip_483868868007527:68007967:68015271:68015370:68018139:6801821068015271:68015370ENSG00000104218.9ENST00000262210.5,ENST00000519163.1,ENST00000519668.1,ENST00000412460.1
exon_skip_483877868030482:68030604:68030977:68031056:68044185:6804431568030977:68031056ENSG00000104218.9ENST00000262210.5,ENST00000519163.1,ENST00000519668.1,ENST00000412460.1
exon_skip_483879868044185:68044315:68049690:68049838:68062017:6806217068049690:68049838ENSG00000104218.9ENST00000262210.5,ENST00000519163.1
exon_skip_483880868049690:68049838:68062017:68062170:68066258:6806637168062017:68062170ENSG00000104218.9ENST00000262210.5,ENST00000519163.1
exon_skip_483882868049690:68049838:68066258:68066371:68070681:6807083168066258:68066371ENSG00000104218.9ENST00000519668.1,ENST00000412460.1
exon_skip_483883868062017:68062170:68066258:68066371:68070681:6807083168066258:68066371ENSG00000104218.9ENST00000262210.5,ENST00000519163.1
exon_skip_483886868076625:68076743:68084650:68084790:68087530:6808767168084650:68084790ENSG00000104218.9ENST00000521168.1,ENST00000262210.5,ENST00000519668.1,ENST00000412460.1
exon_skip_483888868084746:68084790:68085003:68085208:68087530:6808767168085003:68085208ENSG00000104218.9ENST00000521324.1
exon_skip_483894868089914:68089961:68092097:68092161:68102884:6810299468092097:68092161ENSG00000104218.9ENST00000521324.1,ENST00000521168.1,ENST00000262210.5,ENST00000519668.1,ENST00000412460.1
exon_skip_483899868092097:68092161:68102884:68102994:68105698:6810581268102884:68102994ENSG00000104218.9ENST00000521324.1,ENST00000262210.5,ENST00000519668.1,ENST00000412460.1
exon_skip_483900868092097:68092161:68102884:68102994:68107616:6810775368102884:68102994ENSG00000104218.9ENST00000521168.1
exon_skip_483906868102884:68102994:68105698:68105837:68107616:6810775368105698:68105837ENSG00000104218.9ENST00000262210.5,ENST00000519668.1,ENST00000412460.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for CSPP1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_483858867986477:67986586:67987040:67987158:67988716:6798881667987040:67987158ENSG00000104218.9ENST00000519701.1
exon_skip_483860867986477:67986586:67988716:67988816:67998241:6799834567988716:67988816ENSG00000104218.9ENST00000521919.1,ENST00000262210.5,ENST00000412460.1,ENST00000519163.1
exon_skip_483862867998241:67998345:67999057:67999081:68004037:6800410467999057:67999081ENSG00000104218.9ENST00000412460.1,ENST00000519163.1
exon_skip_483863867998241:67998345:68004037:68004118:68005777:6800585568004037:68004118ENSG00000104218.9ENST00000521919.1
exon_skip_483866867998241:67998345:68005777:68005876:68007527:6800796768005777:68005876ENSG00000104218.9ENST00000262210.5,ENST00000519668.1
exon_skip_483867868004037:68004118:68005777:68005876:68007527:6800796768005777:68005876ENSG00000104218.9ENST00000412460.1,ENST00000519163.1
exon_skip_483868868007527:68007967:68015271:68015370:68018139:6801821068015271:68015370ENSG00000104218.9ENST00000262210.5,ENST00000412460.1,ENST00000519163.1,ENST00000519668.1
exon_skip_483877868030482:68030604:68030977:68031056:68044185:6804431568030977:68031056ENSG00000104218.9ENST00000262210.5,ENST00000412460.1,ENST00000519163.1,ENST00000519668.1
exon_skip_483879868044185:68044315:68049690:68049838:68062017:6806217068049690:68049838ENSG00000104218.9ENST00000262210.5,ENST00000519163.1
exon_skip_483880868049690:68049838:68062017:68062170:68066258:6806637168062017:68062170ENSG00000104218.9ENST00000262210.5,ENST00000519163.1
exon_skip_483882868049690:68049838:68066258:68066371:68070681:6807083168066258:68066371ENSG00000104218.9ENST00000412460.1,ENST00000519668.1
exon_skip_483883868062017:68062170:68066258:68066371:68070681:6807083168066258:68066371ENSG00000104218.9ENST00000262210.5,ENST00000519163.1
exon_skip_483886868076625:68076743:68084650:68084790:68087530:6808767168084650:68084790ENSG00000104218.9ENST00000262210.5,ENST00000412460.1,ENST00000519668.1,ENST00000521168.1
exon_skip_483888868084746:68084790:68085003:68085208:68087530:6808767168085003:68085208ENSG00000104218.9ENST00000521324.1
exon_skip_483894868089914:68089961:68092097:68092161:68102884:6810299468092097:68092161ENSG00000104218.9ENST00000262210.5,ENST00000412460.1,ENST00000519668.1,ENST00000521168.1,ENST00000521324.1
exon_skip_483899868092097:68092161:68102884:68102994:68105698:6810581268102884:68102994ENSG00000104218.9ENST00000262210.5,ENST00000412460.1,ENST00000519668.1,ENST00000521324.1
exon_skip_483900868092097:68092161:68102884:68102994:68107616:6810775368102884:68102994ENSG00000104218.9ENST00000521168.1
exon_skip_483906868102884:68102994:68105698:68105837:68107616:6810775368105698:68105837ENSG00000104218.9ENST00000262210.5,ENST00000412460.1,ENST00000519668.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for CSPP1

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002622106798871667988816Frame-shift
ENST000002622106803097768031056Frame-shift
ENST000002622106804969068049838Frame-shift
ENST000002622106806625868066371Frame-shift
ENST000002622106808465068084790Frame-shift
ENST000002622106809209768092161Frame-shift
ENST000002622106810288468102994Frame-shift
ENST000002622106810569868105837Frame-shift
ENST000002622106800577768005876In-frame
ENST000002622106801527168015370In-frame
ENST000002622106806201768062170In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002622106798871667988816Frame-shift
ENST000002622106803097768031056Frame-shift
ENST000002622106804969068049838Frame-shift
ENST000002622106806625868066371Frame-shift
ENST000002622106808465068084790Frame-shift
ENST000002622106809209768092161Frame-shift
ENST000002622106810288468102994Frame-shift
ENST000002622106810569868105837Frame-shift
ENST000002622106800577768005876In-frame
ENST000002622106801527168015370In-frame
ENST000002622106806201768062170In-frame

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Infer the effects of exon skipping event on protein functional features for CSPP1

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000262210438412566800577768005876443541137170
ENST000002622104384125668015271680153709821080317349
ENST0000026221043841256680620176806217019922144653704

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST00000262210438412566800577768005876443541137170
ENST000002622104384125668015271680153709821080317349
ENST0000026221043841256680620176806217019922144653704

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q1MSJ51371701329Alternative sequenceID=VSP_026475;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15580290;Dbxref=PMID:15580290
Q1MSJ5137170138172Alternative sequenceID=VSP_040072;Note=In isoform 1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16826565;Dbxref=PMID:16826565
Q1MSJ513717011256ChainID=PRO_0000293464;Note=Centrosome and spindle pole-associated protein 1
Q1MSJ53173491329Alternative sequenceID=VSP_026475;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15580290;Dbxref=PMID:15580290
Q1MSJ531734911256ChainID=PRO_0000293464;Note=Centrosome and spindle pole-associated protein 1
Q1MSJ5653704689740Alternative sequenceID=VSP_026476;Note=In isoform 2. TDLNRMHRQNIDAYHNPDARTYEDKRAVVSLDPNLATSNAENLEDAANKSSG->S;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15580290;Dbxref=PMID:15580290
Q1MSJ565370411256ChainID=PRO_0000293464;Note=Centrosome and spindle pole-associated protein 1
Q1MSJ5653704625669Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q1MSJ5653704672677Compositional biasNote=Poly-Gly


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature
Q1MSJ51371701329Alternative sequenceID=VSP_026475;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15580290;Dbxref=PMID:15580290
Q1MSJ5137170138172Alternative sequenceID=VSP_040072;Note=In isoform 1. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:16826565;Dbxref=PMID:16826565
Q1MSJ513717011256ChainID=PRO_0000293464;Note=Centrosome and spindle pole-associated protein 1
Q1MSJ53173491329Alternative sequenceID=VSP_026475;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15580290;Dbxref=PMID:15580290
Q1MSJ531734911256ChainID=PRO_0000293464;Note=Centrosome and spindle pole-associated protein 1
Q1MSJ5653704689740Alternative sequenceID=VSP_026476;Note=In isoform 2. TDLNRMHRQNIDAYHNPDARTYEDKRAVVSLDPNLATSNAENLEDAANKSSG->S;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15580290;Dbxref=PMID:15580290
Q1MSJ565370411256ChainID=PRO_0000293464;Note=Centrosome and spindle pole-associated protein 1
Q1MSJ5653704625669Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
Q1MSJ5653704672677Compositional biasNote=Poly-Gly


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SNVs in the skipped exons for CSPP1

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
CSPP1_ESCA_exon_skip_483894_psi_boxplot.png
boxplot
CSPP1_HNSC_exon_skip_483894_psi_boxplot.png
boxplot
CSPP1_KIRC_exon_skip_483894_psi_boxplot.png
boxplot
CSPP1_LIHC_exon_skip_483894_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A3A0-01exon_skip_483879
68049691680498386804978968049789Frame_Shift_DelA-p.G637fs
LIHCTCGA-DD-A3A0-01exon_skip_483880
68062018680621706806213068062130Frame_Shift_DelA-p.S691fs
LIHCTCGA-DD-A39Y-01exon_skip_483894
68092098680921616809212568092125Frame_Shift_DelA-p.K1057fs
LIHCTCGA-G3-A3CJ-01exon_skip_483900
exon_skip_483899
68102885681029946810292868102928Frame_Shift_DelC-p.L1083fs
LIHCTCGA-DD-A1EG-01exon_skip_483906
68105699681058376810574068105740Frame_Shift_DelA-p.L1119fs
LIHCTCGA-G3-A3CJ-01exon_skip_483906
68105699681058376810574068105740Frame_Shift_DelA-p.L1119fs
STADTCGA-CG-5724-01exon_skip_483906
68105699681058376810577268105773Frame_Shift_DelTT-p.L1165fs
KIRCTCGA-B8-A54H-01exon_skip_483894
68092098680921616809215868092159Frame_Shift_Ins-Tp.I1068fs
HNSCTCGA-CV-5440-01exon_skip_483894
68092098680921616809214068092140Nonsense_MutationGTp.E1062*
HNSCTCGA-CV-5440-01exon_skip_483894
68092098680921616809214068092140Nonsense_MutationGTp.E1097*
UCECTCGA-AP-A0LM-01exon_skip_483906
68105699681058376810579868105798Nonsense_MutationCTp.R1174*
UCECTCGA-BS-A0UF-01exon_skip_483879
68049691680498386804968968049689Splice_SiteAGe17-2
ESCATCGA-LN-A8I0-01exon_skip_483894
68092098680921616809209668092096Splice_SiteAG.
ESCATCGA-LN-A8I0-01exon_skip_483894
68092098680921616809209668092096Splice_SiteAGe26-2

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
CSPP1_68089914_68089961_68092097_68092161_68102884_68102994_TCGA-B8-A54H-01Sample: TCGA-B8-A54H-01
Cancer type: KIRC
ESID: exon_skip_483894
Skipped exon start: 68092098
Skipped exon end: 68092161
Mutation start: 68092158
Mutation end: 68092159
Mutation type: Frame_Shift_Ins
Reference seq: -
Mutation seq: T
AAchange: p.I1068fs
exon_skip_111139_KIRC_TCGA-B8-A54H-01.png
boxplot
exon_skip_111141_KIRC_TCGA-B8-A54H-01.png
boxplot
exon_skip_483894_KIRC_TCGA-B8-A54H-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
SW13_ADRENAL_CORTEX67988717679888166798881067988810Missense_MutationTGp.S101A
BICR22_UPPER_AERODIGESTIVE_TRACT68030978680310566803100268031002Missense_MutationACp.Q543P
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE68049691680498386804969568049695Missense_MutationGAp.R606Q
SARC9371_BONE68049691680498386804978168049781Missense_MutationCTp.P635S
HCC2450_LUNG68062018680621706806210768062107Missense_MutationCGp.L684V
BICR18_UPPER_AERODIGESTIVE_TRACT68062018680621706806210768062107Missense_MutationCAp.L684I
S117_SOFT_TISSUE68062018680621706806210768062107Missense_MutationCAp.L684I
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE68062018680621706806210768062107Missense_MutationCAp.L684I
BICR18_UPPER_AERODIGESTIVE_TRACT68062018680621706806211468062114Missense_MutationCAp.P686Q
S117_SOFT_TISSUE68062018680621706806211468062114Missense_MutationCAp.P686Q
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE68062018680621706806211468062114Missense_MutationCAp.P686Q
SNU1040_LARGE_INTESTINE68062018680621706806215668062156Missense_MutationCTp.A700V
VMRCRCZ_KIDNEY68066259680663716806628668066286Missense_MutationTCp.F714S
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE68066259680663716806629768066297Missense_MutationAGp.N718D
NCIH1155_LUNG68066259680663716806630668066306Missense_MutationGAp.G721S
A704_KIDNEY68066259680663716806631368066313Missense_MutationCGp.P723R
MDAMB453_BREAST68084651680847906808478468084784Missense_MutationGCp.D983H
SNUC5_LARGE_INTESTINE68092098680921616809215168092151Missense_MutationTGp.S1065R
HCC1143_BREAST68102885681029946810291568102915Missense_MutationACp.E1079A
PACADD137_PANCREAS68102885681029946810292668102926Missense_MutationCAp.L1083I
PRECLH_PROSTATE68102885681029946810294768102947Missense_MutationCAp.P1090T
LS180_LARGE_INTESTINE68102885681029946810296268102962Missense_MutationCTp.R1095C
CW2_LARGE_INTESTINE68102885681029946810296368102963Missense_MutationGAp.R1095H
NCIH2110_LUNG68084651680847906808464968084655Splice_SiteAGGAAAA-p.KEK938fs

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CSPP1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CSPP1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CSPP1


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RelatedDrugs for CSPP1

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CSPP1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource